Endocrine Abstracts

Introduction: MODY (maturity-onset diabetes of the young) is a group of heterogeneous diabetic disorders characterized by dysfunction of insulin secretion by the β-cell and genetically transmitted. MODY diabetes is thought to account for 2-5% of all diabetic disorders, but is often under-diagnosed. We report two suspected cases of MODY diabetes.

Observations: Case 1: 40-year-old patient, known diabetic for 3 years, initially on Gliclazide 60 mg and Metformin 2 g, currently on Mixtard 30 (20-00-10), diabetic heredity in mother, brother and 2 maternal uncles, SD: unknown, patient with familial polycystic kidney disease (in mother, brother and 2 maternal uncles) and renal transplant in mother in 2011, MODY 5 was suspected. Case 2: 20-year-old patient, known diabetic for 3 years, put on Mixtard 30 (16-00-20) heredity in father and paternal grandfather, Hearing loss since birth, Admitted for diabetic ketosis (first episode) MODY 2 ans mitochondrial diabetes were suspected.

Discussion: MODY is therefore a highly heterogeneous condition, both at the molecular level, in terms of the genes involved, and in terms of the severity and evolution of the insulin secretion deficit, the level of hyperglycemia and the frequency of complications. The initial definition of MODY was purely clinical: non-ketotic diabetes, early onset, usually before age 25, autosomal dominant, and is frequently misdiagnosed as type 1 or type 2 diabetes. Molecular diagnosis is necessary to better understand the evolution of the disease, propose appropriate treatment and screen relatives. High-throughput sequencing has enabled a major advance in the diagnosis of monogenic diabetes. Mutations in the glucokinase (GCK) (MODY 2) and hepatocyte nuclear factor (HNF) 1A/4A genes (MODY 3 and MODY 1, respectively) are the most common causes of MODY.

Conclusion: These observations illustrate the diagnostic difficulties of MODY diabetes. In the event of clinical suspicion, genetic confirmation enables therapeutic adaptation and early management of other affected family members.